Next‐generation sequencing for the diagnosis of MYH9 ‐RD: Predicting pathogenic variants

Author:

Bury Loredana1ORCID,Megy Karyn23,Stephens Jonathan C.23,Grassi Luigi23,Greene Daniel234,Gleadall Nick23,Althaus Karina56,Allsup David7,Bariana Tadbir K.238,Bonduel Mariana9,Butta Nora V.10,Collins Peter11,Curry Nicola12,Deevi Sri V. V.23,Downes Kate23,Duarte Daniel23,Elliott Kim13,Falcinelli Emanuela1,Furie Bruce14,Keeling David15,Lambert Michele P.1617,Linger Rachel23,Mangles Sarah18,Mapeta Rutendo23,Millar Carolyn M.1920,Penkett Christopher23,Perry David J.4,Stirrups Kathleen E.23,Turro Ernest2321,Westbury Sarah K.22,Wu John23,BioResource NIHR24,Gomez Keith6,Freson Kathleen25,Ouwehand Willem H.232627,Gresele Paolo1ORCID,Simeoni Ilenia23ORCID

Affiliation:

1. Department of Internal Medicine, Section of Internal and Cardiovascular MedicineUniversity of PerugiaPerugia Italy

2. Department of HaematologyUniversity of Cambridge, Cambridge Biomedical CampusCambridge UK

3. NIHR BioResource ‐ Rare Diseases, Cambridge Biomedical CampusCambridge University HospitalsCambridge UK

4. Department of Haematology, Addenbrooke's Hospital, Cambridge Biomedical CampusCambridge University Hospitals NHS Foundation TrustCambridge UK

5. Institute for Immunology and Transfusion MedicineUniversitätsmedizin Greifswald Ernst‐Moritz‐Arndt University GreifswaldGreifswald Germany

6. Transfusion MedicineMedical Faculty TübingenTübingen Germany

7. Hull York Medical SchoolUniversity of HullYork UK

8. The Katharine Dormandy Haemophilia Centre and Thrombosis UnitRoyal Free London NHS Foundation TrustLondon UK

9. Hematology/Oncology DepartmentHospital de Pediatría “Prof. Dr. Juan P. Garrahan”Buenos Aires Argentina

10. Servicio de Hematología y Hemoterapia HospitalUniversitario La Paz‐IDIPazMadrid Spain

11. Arthur Bloom Haemophilia Centre, Institute of Infection and Immunity, School of MedicineCardiff University UK

12. Department of Clinical Haematology, Oxford Haemophilia and Thrombosis CentreOxford University Hospitals NHS Trust, Churchill HospitalOxford UK

13. Oxford Haemophilia & Thrombosis Centre, Department of Haematology, Oxford University Hospitals NHS Trust, Churchill Hospital, Oxford and the NIHR BRC, Blood ThemeOxford Centre for HaematologyOxford UK

14. Beth Israel Deaconess Medical CenterHarvard Medical SchoolBoston Massachusetts

15. Churchill HospitalOxford University Hospitals UK

16. Department of PediatricsPerelman School of Medicine at the University of PennsylvaniaPhiladelphia Pennsylvania

17. Division of HematologyChildren's Hospital of PhiladelphiaPhiladelphia Pennsylvania

18. Basingstoke and Hampshire Hospital, NHS Foundation Trust UK

19. Hampshire Hospital NHS Foundation Trust UK

20. Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences CentreImperial College LondonLondon UK

21. Medical Research Council Biostatistics Unit, Cambridge Biomedical CampusCambridge Institute of Public HealthCambridge UK

22. School of Cellular and Molecular MedicineUniversity of BristolBristol UK

23. British Columbia Children's HospitalVancouver Canada

24. NIHR BioResource, Cambridge Biomedical CampusCambridge University HospitalsCambridge UK

25. Department of Cardiovascular Sciences, Center for Molecular and Vascular BiologyKU LeuvenLeuven Belgium

26. NHS Blood and TransplantCambridge Biomedical CampusCambridge UK

27. Wellcome Trust Genome CampusWellcome Trust Sanger InstituteCambridge UK

Funder

National Institute for Health Research

British Heart Foundation

European Commission

NHS Blood and Transplant

Wellcome Trust

Fondazione Umberto Veronesi

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference39 articles.

1. MYH9-Related Platelet Disorders

2. Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes;Arrondel C.;Journal of the American Society of Nephrology,2002

3. Inherited thrombocytopenias: A proposed diagnostic algorithm from the Italian Gruppo di Studio delle Piastrine;Balduini C. L.;Haematologica,2003

4. Inherited thrombocytopenias

5. Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias

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